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A novel germline mutation in SDHA identified in a rare case of gastrointestinal stromal tumor complicated with renal cell carcinoma.
TLDR
A rare case diagnosed as a WT GIST complicated with a synchronous renal chromophobe cell tumor and detected a novel germline heterozygous mutation (c.2T>C: p.M1T) in the initiation codon of the SDHA gene is presented.
Recurrent abdominal liposarcoma: analysis of 19 cases and prognostic factors.
  • W. Lu, J. Lau, +6 authors X. Qin
  • Medicine
    World journal of gastroenterology
  • 7 July 2013
TLDR
Early re-operation for relapse is preferred and gross resection most likely prolongs the RFI, and both single-factor survival and multivariate analysis using the Cox proportional hazards model showed that overall survival was correlated with resection extent and pathological subtype.
Molecular Characterization of NF1 and Neurofibromatosis Type 1 Genotype-Phenotype Correlations in a Chinese Population
TLDR
The findings indicate that individuals who exclusively present with multiple CALs exhibit a high possibility (76%) of having NF1 and show a significantly lower mutation rate (p = 0.042) compared with subjects who fulfill the NIH criteria, providing clinicians with the information that subjects only with several CALs harbor a considerable possibility of being attributed to other comparable diseases.
Expression profile of microRNAs in gastrointestinal stromal tumors revealed by high throughput quantitative RT-PCR microarray.
TLDR
The identified miRNAs appear to be novel biomarkers to distinguish malignant from benign GISTs, which may be helpful to understand the mechanisms of Gist oncogenesis and progression, and to further elucidate the characteristics of GIST subtypes.
CeRNA Expression Profiling Identifies KIT-Related circRNA-miRNA-mRNA Networks in Gastrointestinal Stromal Tumour
TLDR
A GIST-specific circRNA-miRNA-mRNA regulatory network analysis demonstrated that the specific KIT-related regulatory networks involved the three circ RNAs, the circRNA host genes and three miRNAs, which may be key regulators of GISTs that could serve as molecular biomarkers and potential therapeutic targets for this malignant disease.
Giant retroperitoneal bronchogenic cyst mimicking a cystic teratoma: A case report.
TLDR
Although rare, bronchogenic cysts must be considered in the differential diagnosis of retroperitoneal teratoma, and surgical resection should be pursued for symptom resolution and to establish a definitive histology.
Clinical and Molecular Characterization of NF1 Patients
TLDR
A sensitive, feasible, and comparatively economical protocol is suggested to be effective for the detection of NF1 mutations using blood samples, which was more feasible and useful than cDNA sequencing.
Efficacy and safety of anlotinib, a multikinase angiogenesis inhibitor, in combination with epirubicin in preclinical models of soft tissue sarcoma
TLDR
This study aimed to investigate the efficacy and safety of anlotinib plus epirubicin in a sarcoma patient‐derived xenografts (PDX) model.
Genetic Polymorphisms Contribute to the Individual Variations of Imatinib Mesylate Plasma Levels and Adverse Reactions in Chinese GIST Patients
TLDR
The genetic polymorphisms of rs2242480, rs1045642, rs3814055 were significantly associated with IM plasma levels, and the genetic variations of rs38 14055 were significant associated with the incidence rate of edema in Chinese GIST patients.
Liposarcoma miRNA signatures identified from genome-wide miRNA expression profiling.
TLDR
Ten dysregulated miRNAs were identified that effectively distinguished LPS tissue from adipose tissue and benign lipoma tissue, and LPS tumor tissues from normal adipose tissues in LPS patients, and appear to be novel biomarkers for the detection of LPS.
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